Mayo Clinic scientist building case that Alzheimer's may be caused by genes

Charlie Patton

Wednesday

Jun 20, 2012 at 11:36 AM

Alzheimer's disease is the "epidemic of our century."

That's the opinion of Nilufer Ertekin-Taner, a neurologist and neuroscientist with the Mayo Clinic in Jacksonville who is intimately involved in research on the disease.

Ertekin-Taner was the lead investigator on a study, the results of which were published online recently in PLoS Genetics, in which she and her co-authors build the case that neurodegenerative diseases like Alzheimer's are primarily caused by genes that are either too active or not active enough, rather than by harmful gene mutations.

"We now understand that disease likely develops from gene variants that have modest effects on gene expression, and which are also found in healthy people," said Ertekin-Taner. "But some of the variants - elevating expression of some genes, reducing levels of others - combine to produce a perfect storm that leads to dysfunction."

There are about 5 million people in the United States currently living with Alzheimer's. As people live longer, the disease is only going to become more common, Ertekin-Taner said.

"By 2050, if we don't find a cure or modifying therapy, this disease will have a tremendously negative effect on the world economy," she said.

That's why Ertekin-Taner is excited by some of the discoveries her team has made about the role genes may play in the development of the disease.

"If we can identify the genes linked to a disease that are too active or too dormant, we might be able to define new drug targets and therapies," she said. "... Many further studies need to be done. But we've developed a very nice set of clues."

The daughter of two neurologists, Ertekin-Taner holds both a medical degree and a doctorate in molecular neuroscience and did both her residency in neurology and a fellowship in behavioral neurology at Mayo in Rochester, Minn.

"I'm a clinician researcher," she said. "My main focus is researching Alzheimer's disease, but I do see patients with dementia."

All her work is aimed at better understanding the mysteries of the human brain.

"The brain is the least charted territory," she said. "Understanding the brain is an interesting intellectual challenge."

The study was funded in part by National Institutes of Health grants and the Mayo Alzheimer's Disease Research Center. The complete results are being made available to the scientific community.